Canonical Allele Identifier: CA8443521

Gene: SLC47A2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19706758C>A , CM000679.2:g.19706758C>A	GRCh38
NC_000017.10:g.19610071C>A , CM000679.1:g.19610071C>A	GRCh37
NC_000017.9:g.19550663C>A	NCBI36
NG_052805.1:g.17222G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433844.4:c.731G>T MANE Select	ENSP00000391848.3:p.Trp244Leu
ENST00000325411.9:c.839G>T	ENSP00000326671.5:p.Trp280Leu
ENST00000350657.9:c.731G>T	ENSP00000338084.6:p.Trp244Leu
ENST00000433844.2:c.731G>T	ENSP00000391848.2:p.Trp244Leu
ENST00000463318.5:n.1477G>T
ENST00000467379.1:n.1935G>T
ENST00000467609.5:n.742G>T
ENST00000574220.5:n.620G>T
ENST00000574239.5:c.*225G>T	ENSP00000458694.1:n.*225G>T
NM_001099646.1:c.731G>T	NP_001093116.1:p.Trp244Leu
NM_001256663.1:c.731G>T	NP_001243592.1:p.Trp244Leu
NM_152908.3:c.839G>T	NP_690872.2:p.Trp280Leu
XM_006721455.2:c.731G>T	XP_006721518.1:p.Trp244Leu
XM_006721457.2:c.731G>T	XP_006721520.1:p.Trp244Leu
XM_011523672.1:c.689G>T	XP_011521974.1:p.Trp230Leu
XM_011523673.1:c.584G>T	XP_011521975.1:p.Trp195Leu
XM_011523674.1:c.584G>T	XP_011521976.1:p.Trp195Leu
XM_011523675.1:c.731G>T	XP_011521977.1:p.Trp244Leu
XR_243543.3:n.1340G>T
XR_933998.1:n.840G>T
XR_933999.1:n.840G>T
XR_934000.1:n.840G>T
XR_934001.1:n.840G>T
NR_135624.1:n.1477G>T
NR_135625.1:n.1060G>T
XM_017024221.1:c.839G>T	XP_016879710.1:p.Trp280Leu
XM_017024222.2:c.692G>T	XP_016879711.1:p.Trp231Leu
XM_017024223.1:c.839G>T	XP_016879712.1:p.Trp280Leu
XM_017024224.1:c.839G>T	XP_016879713.1:p.Trp280Leu
XM_017024225.1:c.839G>T	XP_016879714.1:p.Trp280Leu
XM_017024226.1:c.839G>T	XP_016879715.1:p.Trp280Leu
XR_001752432.1:n.948G>T
XR_001752433.1:n.948G>T
NM_001099646.2:c.731G>T	NP_001093116.1:p.Trp244Leu
NM_001256663.2:c.731G>T	NP_001243592.1:p.Trp244Leu
NM_152908.4:c.839G>T	NP_690872.2:p.Trp280Leu
NR_135625.2:n.914G>T
NM_001099646.3:c.731G>T MANE Select	NP_001093116.1:p.Trp244Leu
NM_001256663.3:c.731G>T	NP_001243592.1:p.Trp244Leu
NM_152908.5:c.839G>T	NP_690872.2:p.Trp280Leu
NR_135624.2:n.1477G>T
NR_135625.3:n.914G>T